Severe Combined Immunodeficiency

By Jacob Misinay

SCID is often referred to as the bubble boy disease.

Severe Combined Immunodeficiency is a primary immune deficiency. The defining characteristic is usually a severe defect in both the T- & B-lymphocyte systems.

SCID is actually a group of inherited disorders that cause severe abnormalities of the immune system.

Early diagnosis of SCID is rare because doctors do not routinely perform a test in newborns to count white blood cells. SCID Is caused from a mutation in a gene that affect the immune system. Other types a formed from a mutation of a gene on the X chromosome.
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There are several forms of SCID. The most common type is linked to the X chromosome, which means that it only affects males. Other forms result from spontaneous mutations. Other cases of SCID are caused by a variety of other defects.

SCID would not be noticeable until the child developed an infection. A simple blood test could allow us to treat, and most likely cure SCID in an infant.

SCID is called "combined" immunodeficiency because it affects the function of two kinds of infection-fighting cells where other immune system diseases involve only one.


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Classic signs of SCID include an increased susceptibility to infection and failure to thrive as a result of infections. A baby with SCID may have bacterial, viral, or fungal infections that are much more serious and less responsive to treatment than normal.

Parents who have a child with SCID or a family history of immunodeficiency might want to consider genetic counseling and early blood testing.

Some of the most promising developments in the search for new therapies for SCID center on SCID mice, which can be bred in different genes including ADA, JAK3, and IL2RG.

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Children with SCID are at risk for life threatening infections. From their first months of life, they have infections that may be frequent, severe, long lasting or hard to treat. Infections may occur in the lungs around the brain and spinal cord or in the blood stream
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Frequency


United States:


No population surveys have been performed.

International:


The frequency is estimated to be 1 in 50,000-500,000 births.

Questions:
1.What are some symptoms of SCID?

2.Is there more then one type of SCID?

3.When is SCID noticeable?


Work Cited:
http://www.scid.net/
http://kidshealth.org/parent/medical/allergies/severe_immunodeficiency.html
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency
http://www.marrow.org/PATIENT/Undrstnd_Disease_Treat/Lrn_about_Disease/Immune_System/SCID_and_Tx/index.html